Canonical Allele Identifier: CA2749345

Gene: MASP1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.187243576G>A , CM000665.2:g.187243576G>A	GRCh38
NC_000003.11:g.186961364G>A , CM000665.1:g.186961364G>A	GRCh37
NC_000003.10:g.188444058G>A	NCBI36
NG_029440.1:g.53447C>T , LRG_349:g.53447C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296280.11:c.1136C>T MANE Select	ENSP00000296280.7:p.Thr379Ile
ENST00000337774.10:c.1136C>T MANE Plus Clinical	ENSP00000336792.5:p.Thr379Ile
ENST00000296280.10:c.1136C>T	ENSP00000296280.6:p.Thr379Ile
ENST00000337774.9:c.1136C>T	ENSP00000336792.5:p.Thr379Ile
ENST00000392472.6:c.797C>T	ENSP00000376264.2:p.Thr266Ile
ENST00000468121.1:n.10C>T
ENST00000480349.1:n.1401C>T
ENST00000495249.1:n.67-7189C>T
NM_001879.5:c.1136C>T , LRG_349t2:c.1136C>T	NP_001870.3:p.Thr379Ile
NM_139125.3:c.1136C>T , LRG_349t3:c.1136C>T	NP_624302.1:p.Thr379Ile
NR_033519.1:n.1294C>T
XM_006713700.2:c.1058C>T	XP_006713763.1:p.Thr353Ile
XM_011512989.1:c.1157C>T	XP_011511291.1:p.Thr386Ile
XM_011512990.1:c.1157C>T	XP_011511292.1:p.Thr386Ile
XM_011512989.2:c.1157C>T	XP_011511291.1:p.Thr386Ile
XM_011512990.2:c.1157C>T	XP_011511292.1:p.Thr386Ile
XM_017006869.1:c.1058C>T	XP_016862358.1:p.Thr353Ile
XM_017006870.2:c.1043C>T	XP_016862359.1:p.Thr348Ile
XM_017006871.1:c.1157C>T	XP_016862360.1:p.Thr386Ile
XM_017006872.1:c.797C>T	XP_016862361.1:p.Thr266Ile
NM_139125.4:c.1136C>T MANE Select	NP_624302.1:p.Thr379Ile
NR_033519.2:n.1009C>T
NM_001879.6:c.1136C>T MANE Plus Clinical	NP_001870.3:p.Thr379Ile